MassGeneral Hospital for Children News

Barbara Pober, MD, a medical geneticist at MassGeneral Hospital for Children, explains the risks and questions to ask before using direct-to-consumer genetic testing.

Parents Can Now Test Kids for Risk of Adult Conditions

But Geneticist Barbara Pober, MD, says to ask questions first

06/Jun/2011

New genetic tests are available that can be used to screen children for the possibility they may develop certain medical conditions after they grow up. Results from these “susceptibility” tests might say a child has a slightly greater chance of developing an adult condition, such as high blood pressure or a certain type of cancer, than other adults. In most cases, however, the results are not black and white so that doctors cannot say for sure whether a particular child will develop these conditions in adulthood. Even if results suggest an increased risk, there are presently no treatments or preventatives that a doctor can begin early in life that will alter the outcome as an adult. Instead, a doctor is likely to continue encouraging a healthy lifestyle which is presently the best preventative.

Several companies market these susceptibility tests for adult onset disorders directly to consumers. With increasing availability of direct-to-consumer (DTC) genetic testing, and its moderate pricing, parents may be tempted to purchase DTC genetic tests for their children. But parents should ask some questions before they decide on their own to test their child.

Barbara Pober, MD, a medical geneticist at MassGeneral Hospital for Children, explains the risks and questions to ask before using DTC testing:

A: This is really the first and most important question you should ask. If the answer is “no,” then testing should not be performed. In most cases, it is not possible to treat a child

Testing that Makes Sense

When a baby is born, tests that check for several genetic conditions that require treatment early in the child’s life are routinely performed. This kind of testing is called “Newborn Screening.” Newborn Screening tests have been performed for decades in the United States, are mandated by law in almost every state, and should be performed on every newborn baby.

for a condition he/she may, or may not, develop in adulthood. For this reason, it is not useful, and may even be harmful, for parents to carry out these tests without medical supervision on their children.

Q: Are these kinds of tests reliable?

A: Genetic tests ordered by geneticists or other doctors are done in special laboratories that meet strict quality control standards. The doctor will select a qualified laboratory to perform a test and then help the family understand the results.

The newest “kid on the block“ is the direct-to-consumer (DTC) genetic testing, mentioned above. This is basically a home test kit that can be ordered from a company (and in the future perhaps bought off a drugstore shelf). All home tests are not equally reliable since they may not have passed the same quality control standards.

Q: Is there a downside to this kind of susceptibility testing?

A: Since it’s not currently possible to treat children for conditions that cause symptoms starting in adulthood, it is better to let them grow up and make their own decisions about testing. Testing during childhood limits the future adult’s choices about what he or she wishes to know. If susceptibility testing is done in childhood, a child may hear that he or she is at a slightly increased risk for developing a disorder years down the road but not be fully informed, or understand, the significance, as well as the limitations, of this message. For example, the child could incorrectly conclude the risk is greater than it truly is which, in turn, can lead to psychological harm such as a poorer self image or an increase in anxiety or guilt.

It’s also important to consider that the results of these tests are not always easy to interpret. Since the tests do not provide “yes” or “no” answers, families who use DTC genetic testing run the risk of being confused and possibly even upset by the results they receive.

Finally, some kinds of test results could theoretically make it difficult to obtain health insurance, though the impact of this may lessen as health care reform moves forward and the Genetic Information Nondiscrimination Act (GINA) takes effect.

If you have questions, please talk to your pediatrician.

The bottom line in 2011 is that currently available tests of genetic susceptibility for adult -onset medical conditions that are available in DTC kits should not be performed in children. This is the position of numerous professional societies including but not limited to the American Academy of Pediatrics, American College of Medical Genetics, American Society of Human Genetics and the National Society of Genetic Counselors.

What should you do if you are concerned your child has a genetic condition, or if you have a family history of a particular genetic condition? These are important issues that you should first talk over with your pediatrician, who may be able to assist in referring you to a geneticist.